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Gene variant protects against type 2 diabetes, heart disease, and hypertriglyceridemia

Boston, MA -- A rare gene variant in humans helps to protect against two of the country's top killers -- type 2 diabetes and heart disease -- as well as against hypertriglyceridemia, a condition that increases the risk of heart disease, obesity, and pancreatitis. A team of researchers from Harvard School of Public Health (HSPH) and the Channing Laboratory published their findings in this week's issue of the Proceedings of the National Academy of Sciences.

Individuals who had the gene variant had 12 percent lower levels of triglycerides in their blood serum than subjects who did not have the variant. Risk of heart disease was 34 percent lower for those with the variant. Risk for type 2 diabetes was 48 percent lower among obese individuals when compared to other obese individuals who did not have the variant.

"This is a perfect example of the interdisciplinary studies between population sciences, nutrition, and basic scientists at HSPH," said Gkhan Hotamisligil, a senior author and James Stevens Simmons Professor of Genetics and Metabolism. The lead author was HSPH Research Associate Gurol Tuncman.

The gene was first identified in mouse studies as a mediator of metabolic disease. Mice that lack this gene, which encodes for a lipid-binding protein called aP2, were partially resistant to type 2 diabetes and exhibited strong protection against atherosclerosis. The HSPH and Channing team -- representing scientific contributions from five separate research groups -- investigated whether the same held true in humans. They reviewed the medical and genetic records and studied the genetic material of 7,899 participants in the Nurses' Health Study and the Health Professionals Follow-Up Study. Of the group, 4.3 percent had the variant.

The team utilized molecular and cellular techniques in fat cells as well as in human fat tissue samples. They found that the variant T-87C, which sits on the promoter region of the gene that produces the aP2 pro
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Contact: Christina Roache
croache@hsph.harvard.edu
617-432-6052
Harvard School of Public Health
25-Apr-2006


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